FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

765142003: Proximal 16p11.2 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3657167014 Proximal 16p11.2 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3657168016 Proximal 16p11.2 microduplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3657169012 Proximal trisomy 16p11.2 en Synonym Active Only initial character case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Proximal 16p11.2 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
Proximal 16p11.2 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Proximal 16p11.2 microduplication syndrome Is a 16p partial trisomy syndrome false Inferred relationship Existential restriction modifier
Proximal 16p11.2 microduplication syndrome Finding site Chromosome pair 16 false Inferred relationship Existential restriction modifier 1
Proximal 16p11.2 microduplication syndrome Is a Duplication of part of short arm of chromosome 16 true Inferred relationship Existential restriction modifier
Proximal 16p11.2 microduplication syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
Proximal 16p11.2 microduplication syndrome Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier 1
Proximal 16p11.2 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Proximal 16p11.2 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Proximal 16p11.2 microduplication syndrome Finding site Chromosome pair 16 true Inferred relationship Existential restriction modifier 2
Proximal 16p11.2 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
Proximal 16p11.2 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start